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Inborn errors of metabolism

Gene: HSPA9

Amber List (moderate evidence)

HSPA9 (heat shock protein family A (Hsp70) member 9)
EnsemblGeneIds (GRCh38): ENSG00000113013
EnsemblGeneIds (GRCh37): ENSG00000113013
OMIM: 600548, Gene2Phenotype
HSPA9 is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia;Epiphyseal, Vertebral, Ear, Nose, plus associated findings.
Monoallelic variants reported in Anemia, sideroblastic, 4 182170.
Created: 30 Sep 2019, 1:35 p.m. | Last Modified: 30 Sep 2019, 1:35 p.m.
Panel Version: 1.330
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated cases.
Created: 30 Sep 2019, 1:33 p.m. | Last Modified: 30 Sep 2019, 1:33 p.m.
Panel Version: 1.329

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed in the Analysis & Interpretation meeting and decided to make this red for now.
Created: 25 Apr 2016, 12:18 p.m.
Comment on list classification: PMID: 26598328 describes the identification of biallelic variants in HSPA9 in three patients (two of which are siblings), with EVEN-PLUS syndrome (a proposed syndrome name), and discussed the evidence for likely effect on HSPA9 function due to its role as a mitochondrial chaperone.
Created: 15 Feb 2016, 11:46 a.m.
Comment on mode of inheritance: One patient was compound heterozygous, the two siblings were homozygous for a seperate mutation. Unaffected parents were heterozygous.
Created: 15 Feb 2016, 11:44 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Even-plus syndrome 616854
OMIM
600548
Clinvar variants
Variants in HSPA9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HSPA9 were changed from EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings to Even-plus syndrome 616854

30 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hspa9 has been classified as Amber List (Moderate Evidence).

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HSPA9 was added gene: HSPA9 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to PMID: 26598328 Phenotypes for gene: HSPA9 were set to EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings